{"orpha":254881,"name":"Spinocerebellar ataxia with epilepsy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MSCAE","Mitochondrial spinocerebellar ataxia with epilepsy","SCAE"],"definition":"A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-254881/","orphanet_url":"https://www.orpha.net/en/disease/detail/254881","names":{"fr":{"name":"Ataxie spinocérébelleuse avec épilepsie","synonyms":["Ataxie spinocérébelleuse mitochondriale avec épilepsie","MSCAE","SCAE"],"definition":"Syndrome rare de maintenance de l'ADN mitochondrial caractérisé par une ataxie cérébelleuse, une neuropathie périphérique sensorielle, une myoclonie, une épilepsie, des troubles cognitifs progressifs, un ptosis et une ophtalmoplégie externe d'apparition tardive. Une insuffisance hépatique, le plus souvent en association avec l'utilisation du valproate de sodium, un médicament antiépileptique, peut également s'observer."},"de":{"name":"Spinozerebelläre Ataxie mit Epilepsie","synonyms":["MSCAE","Mitochondriale spinozerebelläre Ataxie mit Epilepsie","SCAE"]},"es":{"name":"Ataxia espinocerebelosa con epilepsia","synonyms":["Ataxia espinocerebelosa mitocondrial con epilepsia","MSCAE","SCAE"],"definition":"La ataxia espinocerebelosa con epilepsia es un síndrome poco frecuente de alteración del mantenimiento del ADN mitocondrial, caracterizado por ataxia cerebelosa, neuropatía periférica sensitiva, mioclono, epilepsia, deterioro cognitivo progresivo, ptosis de inicio tardío y oftalmoplejía externa. También puede presentarse insuficiencia hepática, más frecuentemente si se usa el antiepiléptico valproato sódico."},"it":{"name":"Atassia spinocerebellare con epilessia","synonyms":["Atassia spinocerebellare mitocondriale con epilessia","MSCAE","SCAE"],"definition":"L'atassia spinocerebellare con epilessia è una sindrome rara da mantenimento del DNA mitocondriale, caratterizzata da atassia cerebellare, neuropatia periferica sensoriale, mioclono, epilessia, deficit cognitivo progressivo, ptosi ad esordio tardivo e oftalmoplegia esterna. I pazienti possono presentare insufficienza epatica, per lo più associata all'assunzione di valproato di sodio, un farmaco antiepilettico."},"nl":{"name":"Spinocerebellaire ataxie met epilepsie","synonyms":["MSCAE","Mitochondriale spinocerebellaire ataxie met epilepsie","SCAE"],"definition":"Spinocerebellaire ataxie met epilepsie is een zeldzaam syndroom van het mitochondriaal DNA-onderhoud, en wordt gekarakteriseerd door cerebellaire ataxie, sensorische perifere neuropathie, myoclonus, epilepsie, progressieve cognitieve beperking, laat aanvangende ptose en externe oftalmoplegie. Leverfalen kan ook voorkomen, meestal geassocieerd met het gebruik van het anti-epilepticum natriumvalproaat."},"pt":{"name":"Ataxia espinocerebelosa com epilepsia","synonyms":["SCAE"]},"pl":{"name":"Ataksja rdzeniowo-móżdżkowa z padaczką","synonyms":["Mitochondrialna ataksja rdzeniowo-móżdżkowa z padaczką","MSCAE","SCAE"],"definition":"*Ataksja rdzeniowo-móżdżkowa z padaczką jest rzadkim zespołem związanym z utrzymaniem integralności mitochondrialnego DNA, który charakteryzuje się ataksją móżdżkową, obwodową neuropatią czuciową, miokloniami, padaczką, postępującym upośledzeniem funkcji poznawczych, opadaniem powiek o późnym początku oraz zewnętrzną oftalmoplegią. Może wystąpić niewydolność wątroby, często w wyniku stosowania leku przeciwpadaczkowego, soli sodowej kwasu walproinowego."},"cs":{"name":"Spinocerebelární ataxie s epilepsií","synonyms":["MSCAE","Mitochondriální spinocerebelární ataxie s epilepsií","SCAE"]},"uk":{"name":"Спіноцеребеллярна атаксія при епілепсії","synonyms":["Мітохондріальна спіноцеребелярна атаксія при епілепсії","MSCAE","SCAE"],"definition":"A rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate."},"zh":{"name":"脊髓小脑共济失调伴癫痫","synonyms":["线粒体脊髓小脑共济失调伴癫痫"],"definition":"脊髓小脑性共济失调合并癫痫是一种罕见的线粒体DNA维持综合征，其特征是小脑性共济失调、感觉周围神经病变、肌阵挛、癫痫、进行性认知障碍、晚发性上睑下垂和外眼肌麻痹。肝功能衰竭也可能发生，通常与抗癫痫药物丙戊酸钠的使用有关。"},"tr":{"name":"Epilepsi ile seyreden spinoserebellar ataksi","synonyms":["SCAE","MSCAE","Epilepsi ile seyreden mitokondriyal spinoserebellar ataksi"]}},"xrefs":[{"source":"OMIM","code":"607459","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.21","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1238648682"},{"source":"MONDO","code":"0016809","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564395","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843852","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254818,"name":"Ataxia neuropathy spectrum","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"POLG","name":"DNA polymerase gamma, catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15824347[PMID]","hgnc":"9179","ensembl":"ENSG00000140521","omim":"174763","loci":["15q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-01-13","source":"26735972[PMID]_20301791[PMID]_23545419[PMID]_21956653[PMID]","terms":[{"hpo":"HP:0006554","label":"Acute hepatic failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025722","label":"Cerebral infarct","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033720","label":"EEG with occipital epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012692","label":"Focal T2 hyperintense thalamic lesion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000640","label":"Gaze-evoked nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012377","label":"Hemianopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003348","label":"Hyperalaninemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000182","label":"Movement abnormality of the tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002073","label":"Progressive cerebellar ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002448","label":"Progressive encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null}]}}